Bone Abstracts

Fibrous dysplasia (FD) is a benign skeletal disease caused by somatic activating mutations of Gsα leading to formation of expansile fibroosseous lesions. These may occur in isolation or in association with McCune-Albright syndrome (MAS), characterized by skin pigmentation and hyperfunctioning endocrinopathies, including growth hormone (GH) excess. FD in the craniofacial skeleton may result in significant morbidity including facial asymmetry, vision and hearing ...

It is well established that tumor expression of Gli2, a Hedgehog family transcription factor, contributes to tumor-induced bone disease. Our previous studies investigating genetic inhibition of Gli2 expression in tumor cells have shown promise for the development of therapeutics. While many groups have focused on developing upstream Hedgehog inhibitors for soft-tissue tumors that aberrantly express Gli proteins, we have previously demonstrated that the expression of Gli2 in tu...

Objectives: While local gene therapy for bone applications has shown some success in preclinical models, systemic delivery of transgenes to the skeleton remains a considerable challenge. Viral vectors such as adeno-associated viruses (AAVs) have great potential as vectors for systemic transgene delivery and may be adapted for emerging gene editing technologies. Furthermore, AAV vectors can have high efficiency, low immunogenicity, and selective tropism towards different tissue...

Objectives: Nutritional rickets results from the interaction of poor vitamin D status and limited calcium intake. Elevated serum alkaline phosphatase is a marker of impaired mineralization in many forms of rickets. We assessed the reliability of serum alkaline phosphatase in identifying nutritional rickets in calcium-deprived Nigerian children.Methods: We reanalyzed data from a case-control study of Nigerian children with active rickets (cases) and age-,...

Objectives: To compare and contrast the natural history of osteoporosis and response to zoledronate in children and adolescents with Duchene muscular dystrophy (DMD), spinal muscular atrophy (SMA) or other congenital muscular dystrophies (CMD).Methods: A retrospective medical record review of fracture history, treatment and bone mineral densitometry of children managed at a tertiary centre in Sydney over the last 6 years.Results: A...

Background: Children and adolescents with cerebral palsy (CP) experience musculoskeletal complications including spinal deformities, hip dysplasia and disuse osteoporosis. Bisphosphonates can improve bone mineral density, prevent fragility fractures. It is unclear if prior bisphosphonate use modifies post-operative complication in children with CP. Our aim was to compare surgical complications in children with CP with and without previous bisphosphonate treatment.<p class=...

Objectives: Nutritional rickets results from the interaction of poor vitamin D status and limited calcium intake. Vitamin D requirements are greater in children with limited intake of calcium. We sought to determine the serum 25-hydroxyvitamin D [25(OH)D] concentration that can prevent rickets in calcium-deprived Nigerian children.Methods: We reanalyzed data from a case-control study of Nigerian children with active rickets (cases) and age-, sex-, and we...

Objective: The potential for clinical trials to impact patient care may be limited if the outcomes reported vary by trial and lack direct relevance to patients. We aimed to systematically assess the scope and consistency of outcomes reported in randomised trials of interventions for children with osteogenesis imperfecta.Methods: We systematically searched for all published and unpublished randomised trials of interventions for children with osteogenesis ...

Objectives: To evaluate the effect of 24 weeks of weight bearing vibration therapy (WBVT) on muscle strength, motor function and bone health in children with congenital myopathies.Methods: A prospective pilot study incorporating a six month observational period followed by 6 months home-based WBVT (Galileo® Pro) was undertaken. Ambulant children with congenital myopathies aged 4–16 years were eligible for inclusion. Participants were assessed a...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...